Saturday’s social gatherings kicked off with the Old Town Trolley Ride and ended the day with a casual Meet and Greet. “This is the first time in my life I have ever met anyone else with hypersomnia let alone be able to sit and talk to them and share stories. This has truly been life changing for me,” said one attendee.

Sunday’s HF Conference (#HFconf) welcomed all attendees and livestream viewers, both national and international. The “Advocacy and Empowerment” theme presented through each speaker, addressed the various challenges for people with hypersomnia. One comment post-conference comment, “Thank you for your hard work. I spent (many years) hiding my condition from the world and friends. It was so difficult pretending. Now I don’t have to.”

Our June 4th “Advocacy and Empowerment” conference video (unedited) is now available for a limited time on our YouTube channel, in 2 parts. #beyondsleepy#HFconf

We are sincerely grateful to our 2017 Boston conference sponsors. Thanks to their support we were able, once again, to livestream as well as professionally record audio/video of this conference. On behalf of the entire hypersomnia community we wish to thank Balance Therapeutics, Pavilion Compounding Pharmacy, Village Pharmacy of Lynnfield, and E. Matthew Steinberg, AIF – Oppenheimer.

AAN is the American Academy of Neurology and the meeting was held in Boston, MA, April 22-28, 2017. The AAN Annual Meeting is the world’s largest gathering of neurologists, bringing together more than 10,000 neurology professionals across the globe, to network, discuss cutting-edge research, and take part in top-rated education programming across a wide variety of topics.

Dr. Lynn Marie Trotti gave two talks related to hypersomnia at the AAN meeting:

The Hypersomnia Foundation is pleased to announce that Dr. Kate Kaplan, a clinical psychologist and sleep researcher at Stanford University is joining the list of presenters at HF’s Regional Conference in Boston on June 4th.

Dr. Kaplan will review ways that therapy can help individuals with hypersomnia manage symptoms and lead active, full lives. Dr. Kaplan practices behavioral sleep medicine and works frequently with individuals who have hypersomnia.

Dr. Kaplan is on the clinical faculty in the Psychiatry Department at Stanford University. Dr. Kaplan received her B.A. and M.A. from Stanford University and completed a Ph.D. at the University of California Berkeley, where she focused on hypersomnia co-occurring with psychiatric disorders. Dr. Kaplan returned to Stanford for clinical and research fellowships with an emphasis on sleep and sleep disorders. She has published in areas related to hypersomolence, sleep inertia and sleep treatments.

Speakers already scheduled include Dr. Lynn Marie Trotti of Emory University and Georgia disability attorney Anjel Burgess. Dr. Trotti will provide a clinical update on the field of IH, and the CoRDS patient registry. Ms. Burgess will discuss how workers with IH should prepare to “Stay Ahead of IH” on the job. In addition, HF Board Member Celia King will moderate a discussion on managing IH at college featuring Mary King, EdD, and two college students, Olivia G. Robbins and Jessamine Griewahn-Okita.

The conference takes place in Boston on Sunday, June 4th in the Johnson Building of the Boston Public Library, Rabb Lecture Hall, from 12:30 – 4:30 p.m. Optional social event planned for Saturday June 3rd include a trolley tour of the city (tickets $25) and a casual “meet and greet” evening.

Hypersomnia Foundation Regional Conference on June 4th

The Hypersomnia Foundation (HF) board is finalizing the program for its 2017 Boston Regional Conference. We will provide Eventbrite registration details in the near future via Facebook, Twitter and Somnusnooze.

Information below will help you begin making your travel plans to Boston. Read to the bottom for information on special hotel accommodations!

Survey responders voted the trolley tour #1 choice for our Saturday afternoon activity. Sit back, relax and discover all that Boston has to offer by means of this sightseeing tour! Group booking arrangements will be available through our Eventbrite once it is live, and we anticipate the per person rate will not exceed $36.00 (seating will be limited).

7:30PM – Meet and Greet Game Night

Enjoy a casual meet and greet with light snacks and games hosted by the HF Board at the Residence Inn Boston Harbor on Tudor Wharf.This event is FREE but you will need to register once our Eventbrite is live.

We have booked Rabb Lecture Hall in the newly renovated Johnson Building at the Boston Public Library for another fabulous regional conference featuring dynamic speakers.In this state-of-the-art facility, our outstanding speakers will cover research updates on idiopathic hypersomnia and related disorders. This year’s conference, however, will also focus on advocacy and empowerment to assist people with hypersomnia and their supporters navigate this world living with a chronic, rare disorder.

COST OF CONFERENCE ATTENDANCE – We understand Boston can be pricey. With this in mind, we have been hard at work negotiating the perfect location and space for our conference. The stars aligned and this year attendance to this event will be FREE!
Due to limited space you will need to register for the conference once the Eventbrite is live.

At this moment we are not 100% certain that Livestreaming the event will be possible, but are working diligently to identify sponsorship to help cover AV and Livestreaming costs. Watch for updates.

Hotel Accommodations – For Saturday night, June 3rd, The Residence Inn Boston Harbor on Tudor Wharf has offered a special group rate of $289.00 USD per night (plus tax) for a studio suite. All rooms include complimentary breakfast and in-room high-speed internet access. These discounted rooms are limited and we cannot stress enough to book early!

This Residence Inn has generously agreed to offer this same rate for a limited number of rooms for Friday (June 2) and Sunday (June 4) nights as well.

To make a reservation guests can either call 800-331-3131 to the central reservation team (be sure to mention the Hypersomnia Foundation room block) or book online through this link:

With specific hotel questions please contact Dory Noll at the Residence Inn,
at 617-933-5313 and she will be happy to assist you.

Details about registration for the Saturday trolley tour and the meet and greet, as well as for Sunday’s Regional Conference will be highlighted in a future SomnusNooze once program details have been finalized.

During the presentation by David Rye, MD, PhD titled “What are the latest developments in research on idiopathic hypersomnia?” at the Beyond Sleepy in the Mile-High City Hypersomnia Conference, he pointed out that, while on the one hand without a known biological biomarker there is a large unmet clinical need for people with idiopathic hypersomnia, on the other hand a growing awareness garnering increasing interest and recognition within the medical community is gaining momentum.

Following is an abbreviated summary of his talk prepared by Dr. Michelle Emrich. As Dr. Rye had mentioned this is not an all-inclusive list but specific highlights of recent development in research, collaboration, and treatments of idiopathic hypersomnia:

In the fall of 2016 The Emory University sleep research team and collaborators anticipate applying for a newly announced FDA orphan products natural history grant that has the possibility to yield $400,000/yr of additional financial support for up to 5 years.

Studies of non-sleepy controls indicate that nearly ¼ (22%) are asleep by 8 minutes, which demonstrates that MSLT based criteria of ≤ 8 minutes put forward by the International Classification of Sleep Disorders (ICSD) is poor at discriminating IH from controls (i.e., it is a “poor” test in lacking specificity).

71% of IH with long sleep have MSLT > 8 min (i.e. considered to be normal), showing that MSLT based criteria also have poor sensitivity for rendering a diagnosis of IH (C Vernet and I Arnulf, Sleep (2009)).

A “cluster analysis” (i.e., unbiased probing for the degree of commonality ofsymptoms) by Sonka, Susta and Billiard suggests that IH and Narcolepsy Type 2 (NT-2) share more similarities than differences. (Narcolepsy with and without cataplexy, idiopathic Hypersomnia with and without long sleep time: a cluster analysis. Sleep Medicine 16(2):225-31).

Dr. David Plante (U. Wisconsin) is continuing his work looking at hypersomnia in affective disorders (e.g., depression and bipolar disease). Sleep propensity in psychiatric hypersomnolence: a systematic review and meta-analysis of MSLT findings. Sleep Medicine Reviews – in press (2016).

Dr. Plante has a five-year K23 training grant from the National Institutes of Health (NIH). Research

Dr. Plante has also been successful in getting a strategic research award from the American Sleep Medicine Foundation (ASMF) to test the usefulness of a multidimensional assessment in improving the evaluation and treatment of hypersomnolence. Questions he’ll be looking at with this research award:

Do novel objective hypersomnolence measures incorporated into routine MSLT workflows capture aspects of hypersomnolence not quantified by current standards?

Is the Hypersomnia Severity Index a valid subjective measure in patients referred for evaluation of suspected CNS disorders of hypersomnolence? This is a new index he’s developed.

Do novel objective measures of sleepiness and the Hypersomnia Severity Index faithfully capture improvement with treatment?

Dr. Lynn Marie Trotti (Emory University) also has been awarded a K23 training grant from the NIH relevant to IH and hypersomnia.

Aim 1: Define functional neuroimaging signatures of pathological sleepiness of different etiologies (IH vs. Narcolepsy Type 1 during WAKE). She anticipates unique signatures by disease state diagnosis in FDG-PET regional hypo- metabolism. She hypothesizes that in the resting state functional magnetic resonance imaging (fMRI) will reveal increased connectivity within what has been termed the brain’s “default mode network” (DMN) whereas portions of this brain circuit will deactivate when subjects perform a simple cognitive task (N-back). Diffusion Tensor Imaging (DTI) – decreased fractional anisotropy will also be explored. Aim 2: Brain circuits underlying the symptoms of sleep drunkenness in IH will be explored with similar imaging modalities.

Dr. Andy Jenkins’ (Emory University Depts. of Anesthesia and Pharmacology) research continues to move forward. Midazolam and other drugs in the benzodiazepine class exert their sedative actions via gamma-amino-butyric acid (GABA) by binding between the alpha and gamma subunits of the GABA-A receptor. Dr Jenkins and his team are attempting to decipher precisely the presumptive somnogen that contributes to hypersomnia in many IH and NT2 patients that is acting on the GABA-A receptor. They are methodically exploring the % change in small, GABA-mediated current results after making single amino acid substitutions on the alpha2 subunit of the GABA-A receptor. So far they have successfully identified how small changes dramatically influence how well GABA does its job.

Is somnogen bioactivity specific to IH or might it be a biomarker for other origins of hypersomnia/hypersomnolence? The large NIH R01 grant awarded to Emory University and Dr. Rye supports studying this by comparing IH & NT2 and their spinal fluids with clinical features and spinal fluids collected from sleepy and non-sleepy sleep apnea patients, and non-sleepy controls. They are also anticipating assessing Kleine-Levin-Syndrome (KLS) patients both when in and out of their episodes of hypersomnia.

In order to help discover/define the biological pathways in which the somnogen calls “home” as well as, ultimately, the very nature/structure/chemical identity of the somnogen itself, the Emory University sleep research team is collaborating with:

Dr. Nicholas Seyfried – Assistant Professor in the Emory Dept. of Biochemistry is the lead investigator applying proteomic methods to spinal fluid samples.

Dr. Art Edison – A University of Georgia (U) Georgia Research Alliance scholar is the lead investigator applying metabolomics methods to spinal fluid samples.

Genetics/Molecular Biology– Daly DD and Yoss RE A family with narcolepsy (Mayo Clinic Proceedings (1959) 34:313-319). Dr Rye spoke about this during this conference as well as at the 2015 Hypersomnia Foundation Conference. Four generations of this family were identified. Narcolepsy Type 1 is now known not to be as heritable as the sleepiness described in this family. Only 3 of 13 (16) of these family members exhibited cataplexy. So hypersomnia/hypersomnolence, not Narcolepsy Type 1, appears to be what’s being inherited in this family. Dr Rye also showed several smaller family trees collected at Emory, in which IH, Narcolepsy Type 2, and long sleepers cluster together in families.

Toward genetic research Dr. Rye/Emory has collected $187,500 in donation commitments to begin studies of the genetic components underlying IH and related disorders. The overall goal is to raise $250,000 to fund these preliminary studies, and using this data to position themselves to apply for larger streams of NIH or foundation funding. They are in the process of collating samples and deciding how to best assign diagnoses given the diagnostic challenges alluded to above (e.g, IH vs. Narcolepsy Type 2 vs. long sleepers). The team is also discussing internally and with external collaborators what best first strategies to employ (Genome Wide Association Studies (GWAS) vs. whole exome sequencing [which would be feasible and possibly more fruitful with larger families inclusive of affected and unaffected individuals]).
Most comparable GWAS studies require ~ 1000 samples. The Emory sleep program has 825 plasma samples, 783+ DNA samples, 473 CSF samples. Including DNA samples collected since November 2015 waiting cataloging into their larger biorepository.
Also, 11 patients with repeat CSF samples have been collected under different clinical conditions, which should be very useful for determining what features are unique to wellness vs. hypersomnia by way of proteomic and metabolomics comparisons.
Very recently skin biopsies h=are being collected to derive fibroblasts from which they are then able to morph into immature brain cells to study more intensively, and in a repeated manner.

Clinical Trials & Treatments: Pentylenetetrazol (PTZ; aka BTD-001). This is an anti-GABA-A receptor study drug with mechanism action similar to that of clarithromycin. It is being further developed/studied by Balance Therapeutics for the treatment of cognition and memory deficits in Down’s Syndrome as well as hypersomnia/hypersomnolence in IH and Narcolepsy Type 2. Interestingly, PTZ is still available as one ingredient (viz., cardiazol) of a cough syrup available in Italy. This is the ongoing clinical trial with the acronym of ARISE. Www.arisestudies.com is the first industry sponsored clinical trial of any treatment seeking FDA approval for treatment of IH. This trial is testing the efficacy of Pentylenetetrazol (PTZ) in a rigorous, controlled, crossover, and blinded design. ARISE is actively enrolling patients at > 20 centers including Emory University (see the website for participating centers). This drug has a long and substantial safety record (i.e,. Phase 1 requirement of safety in humans has already been established). A small, unblinded Phase IIa study – 5 subjects (3 IH and 2 Narcolepsy Type 2) each with hypersomnia responsive to clarithromycin and/or flumazenil demonstrated very promising results. So much so that the much larger Phase IIb study is moving forward necessitating recruitment of 120 subjects (60 each with IH and Narcolepsy Type 2).

Emory’s open label experience with flumazenil continues to be promising and publication of their “open-label” experience in an initial 153 treated patients is forthcoming. The paper was accepted June 27, 2016 publication in the Journal of Clinical Sleep Medicine. Beyond this experience which is limited to those patients seen and treated by Drs. Rye or Trotti prior to January 1, 2015, it is estimated that nearly 300 patients with hypersomnia resistant to traditional treatments with wake promoting drugs have been empirically treated with flumazenil through Emory’s outpatient sleep clinic alone. Many additional physicians outside of Emory are increasingly prescribing flumazenil to their patients.

Much has transpired since the 1950’s when Dr. Bedrich Roth coined the term “idiopathic hypersomnia” and progress will continue as we work together and tease out understanding of the causes of idiopathic hypersomnia.

Social Security Disability Series: Part 2

Sleep Disorders and Social Security Disability – What You Need to Know

By Anjel Burgess, JD

Jennie has been fortunate enough to secure her short-term disability benefits. She has also hired an Attorney to assist her with the Social Security Disability application process. Although her family encouraged her to “file on her own instead of paying out of pocket to hire an attorney,” Jennie has learned throughSomnusNooze that Social Security Disability attorneys are not paid by a retainer, as many attorneys are. Rather, they work on a contingency basis, which means that Jennie does not have to pay out of pocket to get representation. For the attorney to get paid, two conditions must be met:

The attorney must win Jennie’s case.

Jennie must be entitled to past-due benefits (also known as back pay).

If both conditions are met, the Social Security Administration (SSA) will pay Jennie’s attorney 25% of Jennie’s back pay, up to a maximum of $6,000. Since obtaining the benefits is of the utmost importance to Jennie, she has decided that she can’t afford NOT to have an attorney. She has hired an attorney who will file an initial application for her and represent her through each step of the process.

Jennie’s attorney has explained to her that most people who receive Social Security Disability benefits have been through a three-step process and that it may take two years or more before she is approved (note that in some states, it is a 2-step process, as the Reconsideration step is eliminated). These steps include the following.

Initial – Roughly 30% to 35% of applicants are approved at this level. Once SSA receives the initial application, they request medical records from Jennie’s providers. Once the SSA receives Jennie’s medical records, SSA will have its own physician or psychologist (or both a physician and psychologist) review the medical records to give their opinion as to what limitations they believe that Jennie has, as well as the impact of those limitations on her ability to work. This would also include a review of the opinion of Dr. Wonderful and any other of Jennie’s treating physicians. Oftentimes, SSA will decide that they need an outside opinion in making their decision. If this occurs, the SSA may require that Jennie be examined by an independent physician or psychologist (at SSA’s expense) who may not have an expertise in idiopathic hypersomnia. This independent professional then prepares a report that summarizes her or his observations and professional opinion. If the case is denied initially, Jennie can appeal.

Reconsideration – Roughly 7% to 10% of applicants are approved at this level. At the Reconsideration step, SSA obtains updated medical records and completes another internal review of Jennie’s file to see if any new evidence would result in a favorable outcome. It is possible that the SSA may send Jennie out for an independent examination at this stage as well. Again, if Jennie is denied, she can appeal.

Hearing – Roughly 50% to 55% of the remaining applicants are approved at this level. This is the stage at which most people are awarded benefits, particularly after attending a hearing in front of an administrative law judge. The hearing is the opportunity for Jennie and her attorney to present the big picture to a judge. The big picture includes all medical records and testimony from Jennie herself. Jennie’s attorney will also have the opportunity to make oral and written arguments on Jennie’s behalf.

The common theme in each step of the process is medical records. Medical records are vital in a disability case because they can provide objective support for an individual’s complaints. For Jennie, her medical records tell the story of a very symptomatic individual who tried multiple medications but could only be productive for about 3 hours throughout the day. Her doctor ruled out many other conditions, and was able to confirm the diagnosis of idiopathic hypersomnia via a polysomnogram and Multiple Sleep Latency Test. Jennie’s medical records provide proof that she has idiopathic hypersomnia and authenticate her symptoms, which are reasonably due to idiopathic hypersomnia.

If you, too, are ready to file for Social Security Disability or have been denied at any step in the process, contact a qualified Social Security Disability Attorney to assist you with the process.

Anjel Burgess is a partner/attorney at the Law Firm of Burgess and Christensen located in Marietta, GA. She exclusively practices Social Security Disability Law for adults and children, as well as the ancillary areas of Guardianships and Special Needs Trusts. By doing so, she has been able to make a positive difference in the daily lives of people who need help the most. You may reach her at Anjel@DisabilityHelpLine.com or 770-422-8111. You can learn more about her services at www.DisabilityHelpLine.com

Have you joined the registry yet?

A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS (Coordination of Rare Diseases at Sanford), the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2). Becoming part of the registry is easy and it could help solve the puzzle of hypersomnia! Simply go to http://www.sanfordresearch.org/cords/ and click on the ENROLL NOW button.

If you haven’t made your plans yet to attend the Hypersomnia Foundation’s regional conference in Denver—Beyond Sleepy in the Mile High City—you might want to do so today. Tickets are selling fast and seating is limited. The big event is in less than seven weeks! A registration link and additional information are available on the Hypersomnia Foundation website, or you can click on the ticket image below to go straight to the registration site.

Wondering whether it’s going to be worth the trip to Denver? Well, wonder no longer. Whether you’re flying across country or driving down the mountain, this meeting offers plenty of time to network and socialize in addition to hearing some fantastic speakers. Remember, attending in person is the only way for you to participate in the question-and-answer session with the experts.

SCHEDULE OF EVENTS

Saturday evening, June 11, from 6:00 to 10:00 pm—Join us in the Atrium Alcove on the fourth floor of the Embassy Suites Hotel 1420 Stout Street, Denver, CO. Catch up with old friends and meet new people as we play board and card games or just spend some time in conversation.

Sunday morning, June 12, from 7:30 to 10:30 am—Join us for a hot made-to-order breakfast at the Embassy Suites Hotel and grab a spot at one of the tables we will have reserved. Don’t worry if you’re not up at 7:30; we’ll save you a place to join us later. (Breakfast is free if you are a guest at the Embassy Suites Hotel and $20 if you are not).

Sunday morning from 10:00 am to noon—Join us to pick up your name badge at registration on the third floor in the Crestone foyer at the Embassy Suites Hotel. Didn’t have enough time to socialize on Saturday evening? We will have a designated gathering space available during this time. Be sure to eat before coming to the conference. We will not be serving lunch.

Sunday afternoon from noon to 5 pm—Join us in the Crestone Salon B meeting room on the third floor of the Embassy Suites to hear six scientific presentations covering the latest on hypersomnia research and how to cope with hypersomnia through the use of behavioral sleep medicine, as well as other fabulous topics. Listed below are the speakers and their topics.

How do our brains control when we go to sleep and when we wake up? Previous studies have tried to answer this question, but, despite years of research, our understanding of this process is incomplete. Therefore, the goal of this study was to identify the elusive mechanisms underlying the control of sleep.

Who were the researchers and what did they do?

Dr. Ueda and colleagues at the University of Tokyo constructed a computer model (called computational modeling) of a neuron (a type of cell in the brain) during sleep to predict what pathway(s) might be responsible for sleep regulation. They then manipulated the proposed pathway in mice to test if the computer model was correct. Dr. Ueda and colleagues employed cutting-edge techniques to either remove the proposed pathway gene products from mice using genetic engineering (called knockout mice), or block the proposed pathway gene products using drugs (called pharmacologic inhibition). The authors then measured how these experimental manipulations of the proposed pathway in mice impacted sleep.

What were the results of the study?

This study revealed that the proposed pathway from the computational model does indeed control sleep duration in mice. Seven genes involved in the pathway emerged as having effects on sleep duration, out of a total 21 examined. The identified genes are involved in the regulation of a calcium-dependent pathway in neurons. Interestingly, changes in this calcium-dependent pathway can increase or decrease sleep duration.

What are the authors’ conclusions?

The authors conclude that this calcium-dependent pathway helps to regulate sleep duration. Future research in this pathway may help uncover the “missing switch between sleep/wake cycles.” This crucial research will lead to a better understanding of normal sleep function, in addition to associated sleep and psychiatric disorders.

Learn about the latest hypersomnia research on June 12th at the Hypersomnia Foundation’s regional conference, Beyond Sleepy in the Mile High City. Scientists will share findings from their recently completed clinical trials and other ongoing studies, lead us on a journey through the drug discovery and approval process, and help us to cope with the daily struggles of hypersomnia. You will also learn how your future participation in the registry can help to solve the puzzle of hypersomnia.

Order your $25 ticket on line to join us in person in Denver or wait until June 1 to sign up for a live Internet stream of the conference, brought to you free of charge through the generous support of Balance Therapeutics, Inc., and Flamel Technologies, SA.

The contents of this website, including text, graphics and other material, are for informational purposes only. This website is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. The Hypersomnia Foundation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information referenced on this website. Reliance on any information on this website is solely at your own risk.

The Hypersomnia Foundation makes no representations or warranties about the satisfaction of any government regulations requiring disclosure of information on prescription drug products. In no event shall The Hypersomnia Foundation be liable for any damages (including without limitation incidental and consequential damages), costs (including without limitation attorney’s fees) based on any claim arising from the use of this website and/or its content.